Marfan's Syndrome is a hereditary disorder of connective tissue, which is the cushioning in joints and is essential for growth in any person. The defect causes, in short, long limbs, heart defects, as well as other optical defects.
Marfan's Syndrome was named after a French pediatrician, Antonin Marfan (1858-1942). He discovered the Marfan's Syndrome when describing a 5-year-old girl with abnormally long and thin limbs, fingers, and hands, all of which were strangely disproportionate to the rest of her body.
The Marfan's Syndrome leaves affected people with long legs, loose joints, (usually) arched backs (called scoliosis), crammed teeth, long bony faces, and may make their breastbone come outwards or look caved-in. Also, affected people will usually have eye difficulties and their vision is usually poor.
Marfan's Syndrome can develope in someone while they're a child, teenager, middle-aged person -- whenever.
Most of the patients that have Marfan's Syndrome are usually unaware of the fact that they have this genetic disease. This is because of numerous amount of symptoms that it has but are not easily recognized or can be excused for being "lanky". Usually, a person should check in with a doctor if they start to experience extreme near-sightedness and learning disabilities (on top of the physical symptoms).
The Marfan's Syndrome is inherited by a person from one or both parents with the abnormal autosomal gene. The child of a parent with the abnormal gene has a 50-50 percent chance of getting Marfan's Syndrome. However, around a fourth of all the people with Marfan's Syndrome do not have a parent with the Marfan's Syndrome gene, meaning that a good portion of people with the Marfan's Syndrome got their mutation from spontaneous new mutation (between the sperm and egg).
The Marfan's Syndrome is caused by an abnormalty in the chromosome 15, which usually is in charge of making proteins called fibrillin. Fibrillin is a protein found with a high concentration in the connective tissue between the eye and the person's lense, so people with Marfan's Syndrome have looser connected lenses, giving them poorer eye-sight as they get older and have to deal with more stress.
People with Marfan's Syndrome have a defect in their chromosome 15, which is responsible for making the protein that makes up a person's connective tissues. This leads to several problems.
Firstly, the entire skeletal structure of a person is longer because the protein is not able to hold bones together as sturdily in the joints as a normal person would have. The most noticeable effect of Marfan's Syndrome is that a person's fingers, arms, legs, and back are all disproportionately long compared to their torso. If you look at someone with Marfan's Syndrome, you'll notice that their arms can stretch much longer than their total height, which is unusual for any normal person.
Secondly, people with Marfan's Syndrome will have an arched back, crowded teeth, and a portruded or indented breastbone. These are also to do with skeletal features of the Marfan's Syndrome, and each can be mostly corrected through surgery.
Thirdly, people with Marfan's Syndrome will have visionary problems, as their lenses of the eye are not fixed as tightly as a normal person's is. Surgery, too, can fix this.
Last and probably most importantly is the heart difficulties someone with Marfan's Syndrome is in danger of. If you look at the section "Is Marfan's Syndrome Treatable?" (down), we also talk about the effects of heart difficulties. The heart is one of the most vital organs in your body, and if damaged can lead to death for the affected person.
(Marfan's Syndrome defects the connective tissue between joints, making the skeletal form longer because it has less resistence. The picture above shows a person's hands with Marfan's Syndrome and how it would look like compared to a normal pair of hands. Notice the joints almost look indented and the fingers are much longer.)
Marfan's Syndrome has no cure, but there are treatments to lesson or get rid of the effects.
The first thing a person with Marfan's Syndrome should do is to get echocardiograms done frequently (about once every year) to check on the heart inside the body. This is done by using sound waves to make a picture, similar to the way pregnant woman are able to view their children inside the womb. Echocardiograms are used to make sure heart structures do not become severely damaged (sometime they won't be damaged very much so that you'd need surgery) and to find the problem soon enough so that you can replace the heart valves.
(The enlarge aorta is the most serious effect of the Marfan's Syndrome because it is connected to a person's heart, and if damaged can cause death)
The main way to treat Marfan's Syndrome is through surgery. Surgery is needed to replace or make better many parts of the body for people with Marfan's Syndrome, mainly parts such as the heart vavles, joints (connective tissue areas), eyes (mainly lenses), scoliosis (arched back -- sometimes a brace can cure this too), and teeth (orthodontist can do this). However, people with Marfan's Syndrome are prone to infection when replacing heart valves, so other medications are needed to make sure that there are no infections. Also, women that are pregnant and that also have the Marfan's Syndrome are at high risk of injury or death, despite what symptoms they have and how severe the genetic defect looks.
Simple things such as staying in smoke-free environments and keeping a good eating diet will also help people who have Marfan's Syndrome live a better, longer, healthier life. People with Marfan's Syndrome often have lung difficulties and by staying in smoke-free environments they keep their already fragile lungs from damage.
Also, people with Marfan's Syndrome who have good eating habits tend to live fuller, healthier lives. Although no vitamin can slow or cease the effects of Marfan's Syndrome, good eating eating habits will help with person live with a healthy lifestlye, decreasing the chance of getting the many other diseases or cancers that can seriously endanger or end a life.
1 in 5000 people in the US are diagnosed with Marfan's.
The survival rate for women with Marfan's is on average, age 74.
The survival rate for men with Marfan's is on average, age 68.
54,000 people total in the US have the disorder.
An estimate of 1 birth out of 10,000 will be affected by Marfans
Median survival was 36years, but this number has increased dramatically over the past 2 years to 48 years.
MARFAN SYNDROME
What is Marfan Syndrome?
How Is It Passed On?
What Are The Causes?
What Are The Symptoms?
What Does It Do?
Is Mafan's Syndrome Treatable?
Put It In Context.
Credits.
+++
What Is Marfan Syndrome?
Marfan's Syndrome is a hereditary disorder of connective tissue, which is the cushioning in joints and is essential for growth in any person. The defect causes, in short, long limbs, heart defects, as well as other optical defects.
Marfan's Syndrome was named after a French pediatrician, Antonin Marfan (1858-1942). He discovered the Marfan's Syndrome when describing a 5-year-old girl with abnormally long and thin limbs, fingers, and hands, all of which were strangely disproportionate to the rest of her body.
The Marfan's Syndrome leaves affected people with long legs, loose joints, (usually) arched backs (called scoliosis), crammed teeth, long bony faces, and may make their breastbone come outwards or look caved-in. Also, affected people will usually have eye difficulties and their vision is usually poor.
Marfan's Syndrome can develope in someone while they're a child, teenager, middle-aged person -- whenever.
Most of the patients that have Marfan's Syndrome are usually unaware of the fact that they have this genetic disease. This is because of numerous amount of symptoms that it has but are not easily recognized or can be excused for being "lanky". Usually, a person should check in with a doctor if they start to experience extreme near-sightedness and learning disabilities (on top of the physical symptoms).
Top
How Is It Passed On?
The Marfan's Syndrome is inherited by a person from one or both parents with the abnormal autosomal gene. The child of a parent with the abnormal gene has a 50-50 percent chance of getting Marfan's Syndrome. However, around a fourth of all the people with Marfan's Syndrome do not have a parent with the Marfan's Syndrome gene, meaning that a good portion of people with the Marfan's Syndrome got their mutation from spontaneous new mutation (between the sperm and egg).Top
What Are The Causes?
The Marfan's Syndrome is caused by an abnormalty in the chromosome 15, which usually is in charge of making proteins called fibrillin. Fibrillin is a protein found with a high concentration in the connective tissue between the eye and the person's lense, so people with Marfan's Syndrome have looser connected lenses, giving them poorer eye-sight as they get older and have to deal with more stress.
Top
What Are The Symptoms?
Symptoms of the Marfan's Syndrome may include(Left is a picture of a funnel breast (pectus excavatum), a symptom of Marfan's Syndrome)
(This list was copied from http://www.nlm.nih.gov/medlineplus/print/ency/article/000418.htm with some added information)
Top
What Does It Do?
People with Marfan's Syndrome have a defect in their chromosome 15, which is responsible for making the protein that makes up a person's connective tissues. This leads to several problems.Firstly, the entire skeletal structure of a person is longer because the protein is not able to hold bones together as sturdily in the joints as a normal person would have. The most noticeable effect of Marfan's Syndrome is that a person's fingers, arms, legs, and back are all disproportionately long compared to their torso. If you look at someone with Marfan's Syndrome, you'll notice that their arms can stretch much longer than their total height, which is unusual for any normal person.
Secondly, people with Marfan's Syndrome will have an arched back, crowded teeth, and a portruded or indented breastbone. These are also to do with skeletal features of the Marfan's Syndrome, and each can be mostly corrected through surgery.
Thirdly, people with Marfan's Syndrome will have visionary problems, as their lenses of the eye are not fixed as tightly as a normal person's is. Surgery, too, can fix this.
Last and probably most importantly is the heart difficulties someone with Marfan's Syndrome is in danger of. If you look at the section "Is Marfan's Syndrome Treatable?" (down), we also talk about the effects of heart difficulties. The heart is one of the most vital organs in your body, and if damaged can lead to death for the affected person.
(Marfan's Syndrome defects the connective tissue between joints, making the skeletal form longer because it has less resistence. The picture above shows a person's hands with Marfan's Syndrome and how it would look like compared to a normal pair of hands. Notice the joints almost look indented and the fingers are much longer.)
Top
Is Marfan's Syndrome Treatable?
Marfan's Syndrome has no cure, but there are treatments to lesson or get rid of the effects.
The first thing a person with Marfan's Syndrome should do is to get echocardiograms done frequently (about once every year) to check on the heart inside the body. This is done by using sound waves to make a picture, similar to the way pregnant woman are able to view their children inside the womb. Echocardiograms are used to make sure heart structures do not become severely damaged (sometime they won't be damaged very much so that you'd need surgery) and to find the problem soon enough so that you can replace the heart valves.
(The enlarge aorta is the most serious effect of the Marfan's Syndrome because it is connected to a person's heart, and if damaged can cause death)
The main way to treat Marfan's Syndrome is through surgery. Surgery is needed to replace or make better many parts of the body for people with Marfan's Syndrome, mainly parts such as the heart vavles, joints (connective tissue areas), eyes (mainly lenses), scoliosis (arched back -- sometimes a brace can cure this too), and teeth (orthodontist can do this). However, people with Marfan's Syndrome are prone to infection when replacing heart valves, so other medications are needed to make sure that there are no infections. Also, women that are pregnant and that also have the Marfan's Syndrome are at high risk of injury or death, despite what symptoms they have and how severe the genetic defect looks.
Simple things such as staying in smoke-free environments and keeping a good eating diet will also help people who have Marfan's Syndrome live a better, longer, healthier life. People with Marfan's Syndrome often have lung difficulties and by staying in smoke-free environments they keep their already fragile lungs from damage.
Also, people with Marfan's Syndrome who have good eating habits tend to live fuller, healthier lives. Although no vitamin can slow or cease the effects of Marfan's Syndrome, good eating eating habits will help with person live with a healthy lifestlye, decreasing the chance of getting the many other diseases or cancers that can seriously endanger or end a life.
Top
Put It In Context.
1 in 5000 people in the US are diagnosed with Marfan's.
The survival rate for women with Marfan's is on average, age 74.
The survival rate for men with Marfan's is on average, age 68.
54,000 people total in the US have the disorder.
An estimate of 1 birth out of 10,000 will be affected by Marfans
Median survival was 36years, but this number has increased dramatically over the past 2 years to 48 years.
Here is a quick video on Marfan Syndrome
Top
Credits.
http://www.marfan.org/nmf/GetSubContentRequestHandler.do?sub_menu_item_content_id=3&menu_item_id=2
http://www.marfan.ie/CorkMeeting.htm
http://www.marchofdimes.com/professionals/681_1216.asp
http://www.nlm.nih.gov/medlineplus/print/ency/article/000418.htm
http://www.niams.nih.gov/hi/topics/marfan/ffmarfan.htm#h
http://www.mayoclinic.org/marfan-syndrome/features.html
http://www.allaboutarthritis.com/AllAboutArthritis/layoutTemplates/html/en/contentdisplay/document/condition/arthritis/clinicalArticle/marfans_syndrome.htm
Top